Canonical Allele Identifier: CA403086947

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594057T>A (hg19) ; chr19:g.7529171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529171T>A , CM000681.2:g.7529171T>A	GRCh38
NC_000019.9:g.7594057T>A , CM000681.1:g.7594057T>A	GRCh37
NC_000019.8:g.7500057T>A	NCBI36
NG_013374.1:g.20T>A
NG_015806.1:g.11562T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1205T>A MANE Select	ENSP00000264079.5:p.Ile402Asn
ENST00000264079.10:c.1205T>A	ENSP00000264079.5:p.Ile402Asn
ENST00000394321.9:n.1520T>A
ENST00000594692.1:n.201T>A
ENST00000595860.5:n.388T>A
ENST00000599334.1:c.82T>A
NM_020533.2:c.1205T>A	NP_065394.1:p.Ile402Asn
NM_020533.3:c.1205T>A MANE Select	NP_065394.1:p.Ile402Asn